POLG Pathogenicity Prediction Server
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5 patient data entries collated from reference Nguyen et al, 2005.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
256Nonsense
mutation:
W1020X
A467T2
Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic academia, hypercoagulable state
-status epilepticus
-intractable seizure
-liver dysfunction
-hypoglycemia
infantile
n/a0.81
257W748S5
E1143G
G848S1
Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
-lactic acidosis
-status epilepticus
-intractable seizure
-liver dysfunction
-hypoglycemia
infantile
n/a11.7
258A467T2
A467T2
Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia
-lactic acidosis
-intractable seizure
-epilepsia partialis
-liver dysfunction
childhood
n/a8.59
259A467T2
G848S1
Refractory seizures, psychomotor regression, liver disease, presented with liver failure
-intractable seizure
-liver failure
-liver dysfunction
infantile
n/a11.3
260A467T2
G848S1
Refractory seizures, psychomotor regression, liver disease, Transient hypoglycemia, Transient lactic academia, Elevated CSF protein, presented with epilepsia partialis continua,
-intractable seizure
-epilepsia partialis
-liver dysfunction
-hypoglycemia
infantile
n/a0.91.8

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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